V72M (p.Val72Met) variant of MCM5 (P33992)
V72M (p.Val72Met) in MCM5 (P33992) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V72M (p.Val72Met) variant details
- p.Val72Met
- ExAC rs762377865
- gnomAD rs762377865
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.43
- MetaLR 0.19
- MetaSVM -0.55
- CADD 26.40
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available